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FLASH GENE

Symbol

DDB1

contributors: mct/pgu - updated : 19-05-2021

HGNC name	damage-specific DNA binding protein 1, 127kDa
HGNC id	2717

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	HIDDA hypotonia, mild to moderate intellectual disability, digital anomalies
Location	11q12.2      Physical location : 61.066.919 - 61.100.666
Synonym name	DDB p127 subunit
Synonym symbol(s)	DDBA, XAP1, XPCE, XPE-BF, UV-DDB1, XPE

DNA

TYPE	functioning gene
STRUCTURE	33.75 kb     27 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

status

confirmed

Map	see CD6 ,VMD2

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001923 27 - 4355 - 1140 - 1998 9781049

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive liver       highly Homo sapiens Reproductive female system placenta     highly   male system testis     moderately Respiratory respiratory tract trachea       Visual eye

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / hematopoietic bone marrow       Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic progenitor cell Homo sapiens

cell lineage
cell lines	in hepatocellular carcinoma cells
fluid/secretion	highly in lymph

at STAGE

physiological period

fetal, pregnancy

Text	predominantly in umbilical cord, and in developing epidermis

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

BPA and BPC domains

mono polymer

heteromer , dimer

HOMOLOGY

interspecies	homolog to rattus Ddb1 (98.7 pc)
	homolog to murine Ddb1 (99.4 pc)

Homologene

FAMILY

DDB1 family

CATEGORY

DNA associated

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus,nucleoplasm
	intracellular,nucleus,chromatin/chromosome

basic FUNCTION	playing a role in DNA pyrimidine-dimer repair, global genomic nucleotide excision repair (NER) and transcription-coupled repair (TCR) of oxidative lesions
	required for histone H3 and histone H4 ubiquitination in response to ultraviolet and may be important for subsequent DNA repair
	playing an important role in development by controlling levels of cell cycle regulators and thereby maintaining genomic stability
	may functionally regulate mitotic exit by modulating APC/CDH1 activity
	conserved protein component of the damaged DNA binding protein complex (DDB) that recognizes UV-induced DNA lesions and initiates the nucleotide excision repair process
	contributes to the activation of DNA repair mechanisms and could be a key factor in regulating the cell cycle in response to UV-induced DNA damage
	essential role likely in Sertoli cell proliferation and normal remodeling of testis cords via TGFB1 pathway
	has a critical function in the development of growth plates, and is essential for the skeleton development by controlling chondrocyte proliferation and differentiation
	DDB1 functions in a complex with CUL4B and PHIP
	A key function of DDB1 is to recognize and bind to areas of UV-induced DNA damage

CELLULAR PROCESS	cell life, cell death/apoptosis
	nucleotide, repair, nucleotide excision repair
	protein, ubiquitin dependent proteolysis

PHYSIOLOGICAL PROCESS

text	modulator of UV-induced apoptosis

PATHWAY

metabolism

signaling

DDB1-CUL4A and MLL1 complexes constitute a novel pathway that mediates CDKN2A activation during oncogenic checkpoint response and is repressed by the polycomb repression complexes during normal growth of young cells

a component	DDB is a heterodimeric complex comprising DDB1 and DDB2 subunits and binds to a wide spectrum of DNA lesions
	DDB1-DDB2 complex serves in the initial detection of UV lesions
	component of the RBX1-CUL4-DDB2 ubiquitin ligase machinery
	FBXW5/DDB1/CUL4A/RBX1 may function to regulate the homeostasis of TSC complexes instead of mediating a specific cellular growth condition
	CRL4 is a multisubunit protein complex, comprising cullin4A (CUL4A), RING H2 finger protein (RBX1), and DNA damage-binding protein 1 (DDB1)
	CUL4A-DDB1 complex is a novel post-translational regulator of stem and progenitor maintenance and differentiation

INTERACTION

DNA	binding tightly to damaged DNA after UV-irradiation

RNA

small molecule

protein	interacting with Simian virus 5 protein V
	interacting with HBV protein X
	interaction with XPA (the physical interaction between DDB1 and 2 and XPA plays an important role in the DDB-mediated NER reaction)
	capable of binding the WD40 domains of CDH1, but not of CDC20, through its BPA and BPC domains
	DDB1 interacts with the INO80 complex providing a mechanistic link between chromatin remodeling activity and the initiating step of nucleotide excision repair
	DYRK2-associated DDB1-UBR5-VPRBP E3 ligase inhibits telomerase by TERT degradation
	SETMAR decreases CHEK1 interaction with DDB1, and decreases CHEK1 ubiquitination
	CDH1 promotes nucleotide excision repair through positively regulating the expression of xeroderma pigmentosum complementation group C (XPC) and DNA damage-binding protein 1 (DDB1)
	DDB1 is acetylated and acetylation promotes DDB1 binding to CUL4B
	nucleolar sirtuin 7 (SIRT7) is a major deacetylase that negatively regulates DDB1-CUL4B interaction

cell & other

REGULATION

Other

proteosomal degradation after UV-irradiation

ASSOCIATED DISORDERS

corresponding disease(s)

HIDDA

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --low   prevents hepatocytes to replicate DNA, induces compensatory proliferation of DDB1-expressing hepatocytes, and eventually leads to development of hepatocellular carcinoma constitutional         DDB1 silencing activates TP53 pathway and leads to significant effects on cell cycle progression and rapid apoptosis

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS